ClinVar Miner

List of variants in gene TRPV4 studied for Charcot-Marie-Tooth disease

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Gene type:
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Total variants: 124
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HGVS dbSNP
NM_021625.4(TRPV4):c.1153-10C>T rs149541389
NM_021625.4(TRPV4):c.1278G>A (p.Thr426=) rs139179261
NM_021625.4(TRPV4):c.1308C>T (p.Ile436=) rs141244183
NM_021625.4(TRPV4):c.1337G>A (p.Arg446His) rs143502097
NM_021625.4(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547
NM_021625.4(TRPV4):c.137C>T (p.Ser46Phe) rs202066574
NM_021625.4(TRPV4):c.145C>A (p.Pro49Thr) rs546287338
NM_021625.4(TRPV4):c.1464C>T (p.Thr488=) rs146841400
NM_021625.4(TRPV4):c.1491+10C>T rs201815805
NM_021625.4(TRPV4):c.1539C>T (p.Gly513=) rs141295418
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) rs115976458
NM_021625.4(TRPV4):c.1584+12G>T rs375908611
NM_021625.4(TRPV4):c.1584+18G>C rs10850750
NM_021625.4(TRPV4):c.1585-18C>T rs201974634
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_021625.4(TRPV4):c.1658+15C>T rs200083069
NM_021625.4(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) rs56177950
NM_021625.4(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344
NM_021625.4(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156
NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met) rs185933892
NM_021625.4(TRPV4):c.1744C>T (p.Leu582=) rs35078611
NM_021625.4(TRPV4):c.1824+4C>T rs147259744
NM_021625.4(TRPV4):c.1825-15C>G rs200602134
NM_021625.4(TRPV4):c.1825-15C>T rs200602134
NM_021625.4(TRPV4):c.183C>T (p.Gly61=) rs773744592
NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) rs770149544
NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.4(TRPV4):c.1899C>T (p.Val633=) rs753027239
NM_021625.4(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422
NM_021625.4(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636
NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512
NM_021625.4(TRPV4):c.1981C>T (p.Arg661Cys) rs772074281
NM_021625.4(TRPV4):c.202C>T (p.Arg68Cys) rs199624080
NM_021625.4(TRPV4):c.2034C>T (p.Ile678=) rs3742037
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) rs375633647
NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) rs200199102
NM_021625.4(TRPV4):c.2102C>T (p.Thr701Ile) rs1592820343
NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) rs148171058
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919
NM_021625.4(TRPV4):c.2433G>C (p.Ser811=) rs34071623
NM_021625.4(TRPV4):c.2447G>A (p.Arg816His) rs1431224527
NM_021625.4(TRPV4):c.2459-9T>G rs115373018
NM_021625.4(TRPV4):c.2472G>A (p.Ser824=) rs149988106
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946
NM_021625.4(TRPV4):c.2517C>T (p.Asp839=) rs546957932
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.28G>C (p.Ala10Pro) rs376436045
NM_021625.4(TRPV4):c.33G>T (p.Gly11=) rs56092423
NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) rs763302555
NM_021625.4(TRPV4):c.387-4C>T rs12305439
NM_021625.4(TRPV4):c.395C>T (p.Pro132Leu) rs779371027
NM_021625.4(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.4(TRPV4):c.50A>G (p.Glu17Gly) rs989621170
NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) rs146304351
NM_021625.4(TRPV4):c.549G>A (p.Glu183=) rs141908793
NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) rs3742030
NM_021625.4(TRPV4):c.57C>T (p.Pro19=) rs112408790
NM_021625.4(TRPV4):c.58G>A (p.Gly20Arg) rs764970185
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.652G>A (p.Glu218Lys) rs515726168
NM_021625.4(TRPV4):c.670A>C (p.Arg224=) rs3825394
NM_021625.4(TRPV4):c.694C>A (p.Arg232Ser) rs387906904
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.4(TRPV4):c.712+10C>T rs115657305
NM_021625.4(TRPV4):c.746G>A (p.Arg249His) rs771294425
NM_021625.4(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) rs56217500
NM_021625.4(TRPV4):c.789T>C (p.Asp263=) rs3742034
NM_021625.4(TRPV4):c.795C>T (p.His265=) rs1344554
NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) rs267607146
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.810G>A (p.Gly270=) rs147558344
NM_021625.4(TRPV4):c.81T>C (p.Gly27=) rs34599967
NM_021625.4(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023
NM_021625.4(TRPV4):c.854-4G>A rs371733585
NM_021625.4(TRPV4):c.854-5C>T rs116401333
NM_021625.4(TRPV4):c.903C>G (p.Val301=) rs748103823
NM_021625.4(TRPV4):c.904A>T (p.Asn302Tyr) rs780551685
NM_021625.4(TRPV4):c.936G>A (p.Ala312=) rs202084699
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) rs267607143
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_021625.5(TRPV4):c.-16C>T
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn)
NM_021625.5(TRPV4):c.1152+12G>T
NM_021625.5(TRPV4):c.1152+15dup
NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp)
NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln)
NM_021625.5(TRPV4):c.1333-16A>C
NM_021625.5(TRPV4):c.1404C>T (p.Ala468=) rs138301077
NM_021625.5(TRPV4):c.1492-17C>T
NM_021625.5(TRPV4):c.1585-15C>A
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs)
NM_021625.5(TRPV4):c.1824+14G>A
NM_021625.5(TRPV4):c.1824+5G>A
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=) rs757493897
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter)
NM_021625.5(TRPV4):c.1977G>A (p.Ser659=)
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp)
NM_021625.5(TRPV4):c.2092C>T (p.Leu698=) rs774321681
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp)
NM_021625.5(TRPV4):c.2157C>T (p.Gly719=)
NM_021625.5(TRPV4):c.2336+10G>C
NM_021625.5(TRPV4):c.2336+1G>A
NM_021625.5(TRPV4):c.2349G>C (p.Val783=)
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu)
NM_021625.5(TRPV4):c.2524G>A (p.Val842Met)
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)
NM_021625.5(TRPV4):c.2610G>A (p.Pro870=)
NM_021625.5(TRPV4):c.2615A>G (p.Ter872Trp)
NM_021625.5(TRPV4):c.396G>T (p.Pro132=)
NM_021625.5(TRPV4):c.403C>T (p.Pro135Ser)
NM_021625.5(TRPV4):c.409G>C (p.Ala137Pro) rs1592853492
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu)
NM_021625.5(TRPV4):c.615C>A (p.Gly205=)
NM_021625.5(TRPV4):c.712+1G>T
NM_021625.5(TRPV4):c.732C>T (p.Ile244=) rs142647385
NM_021625.5(TRPV4):c.760G>C (p.Val254Leu) rs143548402
NM_021625.5(TRPV4):c.796G>C (p.Ala266Pro)
NM_021625.5(TRPV4):c.834G>A (p.Glu278=)

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